Morphology, genetic conditioning, terminology, and the principles of treatment of Treacher Collins syndrome have been presented on the basis of our own material, as well as review of literature.
Fifty patients (27 males, 23 females) were operated on at the Hospital of Plastic Surgery in Polanica Zdrój from 1976 to 2005. The patients were first seen when they were from 1 to 32 years of age (mean, 7). The disease was hereditary in 17 patients, while the remaining subjects did not reveal any genetic conditioning.
The lifesaving surgical treatment was undertaken in 4 children with the most severe form of the disease who presented with dyspnea and paroxysmal apnea. In those cases, the treatment aimed at improving the respiratory function by restoring patency of the nostrils and distraction of the mandible. Twelve patients were operated on for cleft palate between 1 and 2 years of age. Twelve patients had eyelid correction with the use of musculocutaneous flap transposition from the upper eyelid (Z-plasty). The zygomatic bone and lateral wall of the orbit were reconstructed by means of iliac bone grafts in 26 patients. The auricular reconstruction was usually undertaken after 10 years of age. Nine patients underwent bilateral auricular reconstruction by means of a modified Brent method. Fifteen patients aged 12–14 had chin osteotomy according to the Obwegeser method. Nasal osteotomy was performed in 10 patients with characteristic broad, long, and hooked noses, who were operated on after 16 years of age and after completion of orthognathic treatment. In total, 258 surgical procedures were performed in 50 patients, an average of 5.2 operations per every patient.
Apart from a multistage surgical treatment, the patients required a combined multidisciplinary approach, mainly due to hearing impairment and occlusal disturbances. The obtained outcome of treatment, although far from being perfect, but still beneficial, confirmed the correctness of applied approach but at the same time pointed to the necessity of introducing new methods of treatment aiming, among others, at compensating for the tissue deficiency by means of tissue engineering.